Work

Clinical and epidemiological profile of congenital hyperinsulinism in Brazil

Year: 2025

Type: article

Abstract: Introduction: Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in children, often leading to severe neurological complications. Objective: This study aimed to describe the clinical and epidemiological profile of CHI in Brazil. Methods: A cross- sectional study was conducted with caregivers of CHI patients affiliated with the Associação do Hiperinsulinismo Congênito do Brasil. Data were collected via a structured questionnaire adapted from the HI Global Registry, covering clinical presentation, diagnostic pathways, genetic findings, and treatment strategies. Results: Caregivers of 68 patients participated. Symptoms appeared before six months of age in 60% of cases, but 35.5% initially received incorrect diagnoses. Genetic testing was performed in 43 patients, but pathogenic variants were identified in only 7 cases, while the majority (31) was not aware of their results. Diazoxide was the most used medication, though 13% required pancreatectomy. Developmental delays were reported in 44% of cases. Conclusions: Delayed diagnosis and limited access to genetic testing and specialized treatments remain significant barriers in Brazil. This study underscores the need for improved awareness, early recognition strategies, and expanded access to genetic and therapeutic resources to optimize patient outcomes.

Source: Frontiers in Endocrinology

DOI: 10.3389/fendo.2025.1547855

Authors: Raphael D. Liberatore Junior, Anna L. Marques, Laura L. Dos Santos, Thais M. Luciano

Institution: Universidade de São Paulo

Language: English

Topic: Pancreatic function and diabetes

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,801